Sickle cell disease (SCD) is a group of inherited blood disorders that affect the shape and function of red blood cells. Instead of being flexible and round, as healthy red blood cells are, sickle-shaped cells are rigid and crescent-shaped, causing blockages in blood flow and leading to various health complications.
At Intown Pediatric & Adolescent Medicine, we specialize in the diagnosis and treatment of sickle cell disease, offering comprehensive care to help children manage their condition and prevent complications. Our pediatricians, located in Glenwood Park, Brookhaven, and Decatur, provide expert care to families across Atlanta.
What Is Sickle Cell Disease?
Sickle cell disease is a genetic condition caused by a mutation in the HBB gene, which instructs the body to make hemoglobin–a protein in red blood cells that carries oxygen throughout the body. In children with SCD, abnormal hemoglobin, known as hemoglobin S, causes red blood cells to become stiff and take on a sickle shape. These sickle-shaped cells can clump together and block blood flow, leading to episodes of pain, organ damage, and other serious complications.
Sickle cell disease is inherited in an autosomal recessive manner, meaning both parents must carry the defective gene for a child to develop the condition.
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Types of Sickle Cell Disease (SCD Anemia Types)
There are several types of sickle cell disease, each based on the specific genetic mutations that affect hemoglobin. The most common types include:
Hemoglobin SS (Sickle Cell Anemia)
This is the most severe and common form of sickle cell disease, caused by inheriting two copies of the hemoglobin S gene (one from each parent). Children with hemoglobin SS experience more frequent and severe symptoms, including painful episodes and a higher risk of complications.
Hemoglobin SC Disease
This form occurs when a child inherits one hemoglobin S gene and one hemoglobin C gene. Hemoglobin C is another abnormal form of hemoglobin. While hemoglobin SC disease is generally less severe than sickle cell anemia, children may still experience pain crises and other symptoms.
Hemoglobin S Beta-Thalassemia
This type of sickle cell disease occurs when a child inherits one hemoglobin S gene and one beta-thalassemia gene. There are two forms of beta-thalassemia: Beta-zero thalassemia, which is more severe and similar to sickle cell anemia, and beta-plus thalassemia, which is generally milder.
Each form of sickle cell disease affects children differently, so it’s essential to have an accurate diagnosis and personalized treatment plan.
Symptoms of Sickle Cell Disease in Children
The symptoms of sickle cell disease can vary in severity and may begin as early as a few months after birth. Common symptoms of SCD in children include:
Pain Episodes (Vaso-Occlusive Crises)
Painful episodes occur when sickle-shaped cells block blood flow to certain parts of the body, leading to pain in the bones, chest, abdomen, and joints. These episodes can last for hours or days and may require medical treatment.
Anemia
Sickle-shaped cells die faster than normal red blood cells, leading to a shortage of red blood cells (anemia). Symptoms of anemia include fatigue, weakness, pale skin, and shortness of breath.
Swelling in Hands and Feet
Blocked blood flow can cause swelling in the hands and feet, known as dactylitis. This is often one of the earliest signs of SCD in infants and young children.
Frequent Infections
Children with SCD are more prone to infections because the spleen, which helps filter harmful bacteria from the blood, may be damaged or nonfunctional due to sickle cell-related complications.
Delayed Growth
Due to anemia, children with SCD may experience slower growth and delayed puberty compared to their peers.
Vision Problems
Sickle cells can block the tiny blood vessels in the eyes, leading to vision problems or damage to the retina.
Diagnosis of Sickle Cell Disease
Sickle cell disease is typically diagnosed through routine newborn screening, which is performed shortly after birth. Early diagnosis allows for prompt medical intervention and monitoring. The following diagnostic methods are used to confirm SCD:
Blood Test (Hemoglobin Electrophoresis)
A blood test known as hemoglobin electrophoresis is used to detect abnormal hemoglobin, including hemoglobin S and other variants. This test helps determine the specific type of sickle cell disease a child has.
Genetic Testing
Genetic testing may be performed to confirm a diagnosis of sickle cell disease and identify the specific mutations in the HBB gene. This test can also be used to screen family members for the sickle cell trait.
In some cases, prenatal testing is available to determine whether a baby has sickle cell disease or is a carrier of the gene.
Pediatric Sickle Cell Disease Treatment
While there is currently no universal cure for sickle cell disease, early and consistent treatment can help manage symptoms and reduce the risk of complications. At Intown Pediatric & Adolescent Medicine, our pediatricians develop individualized treatment plans for children with SCD, focusing on improving quality of life and preventing crises.
Treatment Options for Sickle Cell Disease Include:
Medications
Children with sickle cell disease are often prescribed medications to reduce pain episodes and prevent complications. The most common medication is hydroxyurea, which helps increase the production of fetal hemoglobin (a type of hemoglobin that does not sickle) and reduces the frequency of pain crises. Penicillin is also often prescribed to children under five to help prevent infections.
Pain Management
Pain episodes are a hallmark of sickle cell disease. Managing pain effectively may involve the use of over-the-counter pain relievers like acetaminophen or ibuprofen, prescription pain medications, or other therapies like heating pads and hydration.
Blood Transfusions
In cases of severe anemia or complications such as stroke, blood transfusions may be necessary to increase the number of healthy red blood cells and reduce the percentage of sickle cells in the bloodstream.
Stem Cell Transplant
For some children with severe sickle cell disease, a bone marrow or stem cell transplantmay offer a potential cure. This procedure involves replacing the damaged bone marrow with healthy marrow from a donor, but it is only an option for a limited number of patients due to the risks involved.
Vaccinations and Preventive Care
Children with SCD are at higher risk for infections, so it is crucial to keep up with routine vaccinations and take preventive measures, such as pneumococcal and meningococcal vaccines. Your pediatrician may also recommend regular screenings to monitor for potential complications, such as organ damage or vision issues.
Managing Sickle Cell Disease
In addition to medical treatments, lifestyle adjustments and regular monitoring can help children with SCD live healthier lives. Some strategies for managing sickle cell disease include:
Hydration
Drinking plenty of water helps keep blood cells hydrated and reduces the risk of pain crises.
Healthy Diet
A balanced diet rich in vitamins and minerals is essential for children with SCD, especially for maintaining healthy red blood cells and preventing complications related to anemia.
Avoiding Triggers
Certain factors, such as extreme cold, dehydration, and high altitudes, can trigger pain episodes. Avoiding these triggers can help minimize the frequency of crises.
Routine Medical Checkups
Regular visits with your pediatrician are important for monitoring the condition, managing symptoms, and adjusting treatment as needed.
Frequently Asked Questions About Sickle Cell Disease
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No, sickle cell disease is a lifelong genetic condition, but with proper treatment and management, many children with SCD can live full, healthy lives.
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Blood transfusions are usually recommended for children with severe complications, such as recurrent pain crises or a history of stroke. Your pediatrician will determine the frequency based on your child’s specific needs.
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While there is no universal cure, a bone marrow or stem cell transplant can potentially cure the disease in some children. However, it is a high-risk procedure and only suitable for certain patients.
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Ensuring your child stays hydrated, avoids extreme temperatures, and follows a healthy lifestyle can help reduce the likelihood of pain episodes. Regular medical checkups and adhering to the prescribed treatment plan are also essential.
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Many children with SCD can participate in physical activities, but it’s important to avoid overexertion, stay hydrated, and take breaks as needed. Discuss your child’s activity level with your pediatrician to ensure their safety.
Schedule an Appointment for Sickle Cell Disease Care in Atlanta
If your child has been diagnosed with sickle cell disease or you are concerned about symptoms, contact Intown Pediatric & Adolescent Medicine to schedule an appointment. Our experienced pediatricians provide expert diagnosis, treatment, and ongoing support at our locations in Glenwood Park, Brookhaven, and Decatur.